J 2002

Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis

IZAKOVIČOVÁ HOLLÁ, Lydie, Dana BUČKOVÁ, Antonín FASSMANN, Tomás HALABALA, Anna VASKŮ et. al.

Základní údaje

Originální název

Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis

Autoři

IZAKOVIČOVÁ HOLLÁ, Lydie (203 Česká republika, garant), Dana BUČKOVÁ (203 Česká republika), Antonín FASSMANN (203 Česká republika), Tomás HALABALA (203 Česká republika), Anna VASKŮ (203 Česká republika) a Jirí VÁCHA (203 Česká republika)

Vydání

J Med Genet, London, BMJ Publishing Group, 2002, 0022-2593

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 7.774

Kód RIV

RIV/00216224:14110/02:00006167

Organizační jednotka

Lékařská fakulta

UT WoS

000179208400012

Klíčová slova anglicky

periodontitis; LPS; gene; polymorphism; CD14 receptor
Změněno: 17. 6. 2009 12:37, prof. MUDr. Lydie Izakovičová Hollá, Ph.D.

Anotace

V originále

Chronic periodontitis, which is the major cause of tooth loss in adults, is characterized by a chronic inflammation of periodontal tissues mainly caused by infection with subgingival gram-negative, anaerobic bacteria. Cellular responses in periodontitis are mediated, in part, by bacterial lipopolysaccharide (LPS), which activates monocytes to express of cytokines, growth factors, and procoagulatory factors via LPS receptor CD14. The aim of this study was to determine whether the functional polymorphisms in the promoter of the CD14 gene are associated with the risk of chronic periodontitis and the severity of the disease. Two polymorphisms located in the promoter region (C(-159)T and G(-1359)T) were analysed by PCR and RFLP methods in a group of 135 patients with chronic periodontitis, and in 207 age- and sex- unrelated randomly selected control subjects. The CD14 allele and genotype distributions were similar between patients and controls. However, the frequency of the G allele of the G(-1359)T polymorphism was higher in patients with severe disease than moderate disease. The homozygous genotype (GG) of this polymorphism was found to be significantly increased in the severe patient group. Allele and/or genotype frequencies of the C(-159)T polymorphism did not differ significantly between severe and moderate periodontitis patients. However, we detected a tendency for an increased frequency of the -159 TT homozygotes in severe patients (19.2%) compared with the moderate subgroup (8.3%). In one patient, we identified a new mutation (28-bp deletion) in the promoter of the CD14 gene (del from -1310 to -1337), which occurred in a heterozygous combination. This study demonstrates that a specific genetic marker, which was previously associated with an increased sCD14 level, may act as a disease modifier of chronic periodontitis in the investigated population.

Návaznosti

MSM 141100002, záměr
Název: Molekulární patofyziologie multigenních chorob
Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární patofyziologie multigenních chorob